Brad Angle
Overview
Explore the profile of Brad Angle including associated specialties, affiliations and a list of published articles.
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Articles
31
Citations
851
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Recent Articles
21.
Pyott S, Schwarze U, Christiansen H, Pepin M, Leistritz D, Dineen R, et al.
Hum Mol Genet
. 2011 Feb;
20(8):1595-609.
PMID: 21282188
Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis-trans isomerase B (PPIB) genes result in phenotypes that range from lethal in the perinatal...
22.
Epstein L, Jalali A, Chary A, Khan S, Ross J, Coppinger J, et al.
Birth Defects Res A Clin Mol Teratol
. 2008 Feb;
82(4):200-10.
PMID: 18302267
Background: De novo constitutional chromosomal anomalies provide important insights into the genetic loci responsible for congenital neurological disorders. However, most phenotypic descriptions of patients with rare chromosomal abnormalities are published...
23.
Angle B, Burton B
Mol Genet Metab
. 2007 Nov;
93(1):36-9.
PMID: 17977044
Glutaric acidemia type II (GAII) is an inborn error of metabolism caused by defects in electron transport flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO) and typically presents with hypo- or nonketotic...
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Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, et al.
Genet Med
. 2007 Feb;
9(2):108-16.
PMID: 17304052
Purpose: Isobutyryl-CoA dehydrogenase deficiency is a defect in valine metabolism and was first reported in a child with cardiomyopathy, anemia, and secondary carnitine deficiency. We identified 13 isobutyryl-CoA dehydrogenase-deficient patients...
28.
Hucthagowder V, Sausgruber N, Kim K, Angle B, Marmorstein L, Urban Z
Am J Hum Genet
. 2006 May;
78(6):1075-80.
PMID: 16685658
Cutis laxa is a condition characterized by redundant, pendulous, and inelastic skin. We identified a patient with recessive inheritance of a missense mutation (169G-->A; E57K) in the Fibulin-4 gene. She...
29.
Angle B, Yen F, Hersh J, Gowans G
Am J Med Genet A
. 2003 Jan;
116A(4):376-80.
PMID: 12522795
Partial duplication of chromosome 3q is a well-described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann-de Lange syndrome. Similarly, an emerging phenotype of a distal 5q...
30.
Angle B, Yen F, Hersh J, Gowans G, Barch M
Am J Med Genet
. 2002 Sep;
111(3):307-12.
PMID: 12210328
We report on monozygotic (MZ) twins with a de novo chromosome abnormality consisting of a partial duplication of chromosome 4 (q25-qter) and deletion of chromosome 1p36. These infants had dysmorphic...